Earlier this week we went to Milwaukee to have another ultrasound and some genetic counseling. We were waiting to hear if me and my husband were both carriers of the Limb Girdle Muscular Dystrophy 2Q, because before we found that out, it couldn’t be for sure that Lua had this condition. Well they said we both do have the change in each gene so that means when Lua was made she got a bad copy from mom and a bad copy from dad causing the protein that makes muscle to not form correctly causing her to have this type of muscular dystrophy, which those who know what muscular dystrophy is, it is a condition you continue to lose your muscle abilities. Now don’t quote me on my explanation of what happened with Lua and the protein theory, it is my basic understanding of what we were told. So, my issue with this, is that Lua was very severe, I know situations where babies are diagnosed with some type of muscular dystrophy, but they still have more usage of their body than Lua had. There are only 2.... 2! cases of her exact diagnosis recorded, and they are both from Turkey. And in those studies, the kids were normal until 4 years of age. The geneticists all say this is the only thing that makes sense for what Lua had, she fit the profile of the condition. Well muscle weakness fits A LOT of different diseases and that is the only thing Lua had in common with these two cases that were reported. They also lived in their 30s and had no respiratory issues. They had eye weakness, Lua did not have, and they were able to walk at normal age, Lua wouldn’t have been walking at 12 moths. So I guess my basic understanding of this means, They are calling it this disease until medicine has caught up and found another name for what she truly had, I think they should maybe change it to Congenital Limb Girdle Muscular Dystrophy 2Q type 0, would that be too long of a name? Type 0 means the most severe type and congenital means present at birth, I think if the name was changed to this I would agree but I suppose a name by any other name right? She must have been the most severe of this condition ever. I recently joined a LGMD group and talked to the members who have this condition, amazing people! But most have never heard of a baby like Lua with that disease. I don’t know why this diagnosis bothers me so much, it isnt like I would be happy if they said yeah we found it was SMA type 0, but hey at least that would make sense.
Here is the kicker and what probably bothers me the most... Since we are carriers of this bad gene, both of us... me from wisconsin, my husband from Sao Paulo Brasil, we will always have a 25% chance of passing it to any future children, or current baby, always. At our ultra sound little Mr. was of course not moving again!!! They have some concerns with his arms, jaw, and foot. Now while I support being positive and believing everything is fine with him, which it very well may be! I have my concerns!!! Thoughts of having to go through everything we went through with Lua all over again is a living nightmare, and I am stuck between deciding to either accept the worst, or deny the worst could happen. I have options though, and options are always great, right...
We can do the amino testing, you know the one where they stick the needle in your belly and get some of the fluid around the baby. This could give us our answers right now if he has it or doesn’t have it. Unfortunately, what will it change? Absolutely nothing except preparing us for worst case scenario. Delivery sounds like it will remain the same plan as if we didn’t know if he had it or not. And ultrasounds, keep doing ultrasounds every 4 weeks to check no him and watch for any signs that may give away him having the same condition or not. I don’t know about you, but I have refused an epidural each labor because the thought of that needle into my back scares me more than dying from pain... I can’t see a needle go into my stomach I am almost positive I will have a heart-attack if we went that way. Besides that, I don’t think I want to know. If they test him and he has the same change in the same gene Lua had, they confirm he will have the same condition as Lua, and he comes out healthy, Well Great! Thanks everyone for scaring the living crap out of me for the last 5 months!!! That is a very big possibility since I am not convinced they are even confident that this is the right diagnosis, if he is healthy and has the same change Lua had, it means we start all over with the diagnosis process...
I am waiting to talk to my normal doctor later this week, I think that may give us more ideas of how to feel or which action to take concerning delivery which I feel will give me a piece of mind. So we wait. And we will wait until the baby is born to know for sure if he will be healthy or not. At least we know that we will love him unconditionally no matter how healthy he is or isn’t... and also we will need to stop the baby making process!
This day of the ultrasound was one of the more difficult days we have had in awhile, because not only did we have to receive a crap load of news, but we had to go through a family history, My sweet dear uncle Ron passed away early that morning before the ultrasound, so it was definitely an annoying time to have to go through, well, everything... His funeral will be Thursday... we all miss him already.
Little Mr.
My Aunt Jill, Uncle Ron with Lua
A few of my Awesome Uncles, our ushers at our wedding... they really rocked it!
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